ライフサイエンスコーパス: monoallelic

1 biallelic) to expression of a single allele (monoallelic).

2 d 18 truncating sequence variants), 63 being monoallelic.

3 ning GNG12-AS1 transcripts are predominantly monoallelic.

4 urvival was similar to that in patients with monoallelic (6.7 months) or biallelic (3.4 months) TP53

5 ons were detected in 62% of probands (n = 55 monoallelic; 6 biallelic).

6 of monoallelic silencing and a low level of monoallelic activation for rearrangement combined with a

7 ocations within developmental stages wherein monoallelic Ag receptor locus recombination is enforced.

8 More interestingly, we also identified monoallelic ALDH18A1 mutations segregating in three inde

9 Placentas retained monoallelic allele-specific gene expression of IGF2, but

10 lly expressed genes remained similar between monoallelic and biallelic clones.

11 the CTCF target site appears to distinguish monoallelic and biallelic expression states.

12 Both monoallelic and biallelic oncogenic NRAS mutations are i

13 dited isogenic stem cell lines with intended monoallelic and biallelic sequence changes in approximat

14 We found that the monoallelic and homozygous mutations, DeltaE1279 and D11

15 Random monoallelic and imprinted genes were pooled and subjecte

16 s harbor 2 JAK3 mutations, some of which are monoallelic and others that are biallelic.

17 oregulated imprinted genes, H19 and Igf2, is monoallelic and parent-of-origin-dependent.

18 s is still unclear as they are predominantly monoallelic and the majority occur at a poly-A tract.

19 n of pre-B cells, that such transcription is monoallelic, and that these highly transcribed alleles a

20 Monoallelic as well as heterozygous and homozygous biall

21 f antigen-receptor loci have linked directed monoallelic association with pericentromeric heterochrom

22 Monoallelic ATR gene targeting in MLH1-deficient HCT 116

23 ses of T-ALL diagnostic specimens, revealing monoallelic BCL11B deletions or missense mutations in 9%

24 he promoter, our data strongly indicate that monoallelic BES transcription is activated by a mechanis

25 Plants that were monoallelic, biallelic and chimeric for mutations at the

26 nous retrovirus (ERV) targets, the rest show monoallelic binding based either on parental origin or o

27 he neonatal brain, and that cause mosaics of monoallelic brain cells that differentially express wild

28 in ten individuals with inherited or de novo monoallelic BRPF1 mutations.

29 associated genes, and 9% of individuals were monoallelic carriers of a rare LP or P mutation in 39 ge

30 are breast cancer susceptibility alleles in monoallelic carriers, with an estimated relative risk of

31 nd confer susceptibility to breast cancer in monoallelic carriers.

32 istinct CD177 neutrophil subsets and a novel monoallelic CD177 expression pattern that does not follo

33 Haplotype analysis indicated a unique monoallelic CD177 expression pattern, where the offsprin

34 ChIP and reporter assays in HeLa cells with monoallelic CD177 expression showed that methylation red

35 ions were found in 38 CN-AML patients with a monoallelic CEBPA mutation and in 89 CN-AML patients wit

36 of DNA methylation reduced the proportion of monoallelic cells.

37 ic clones express p120 at twice the level of monoallelic clones.

38 eral ESs simultaneously, indicating that the monoallelic control is not determined only at transcript

39 KCLs that is inactivated by a combination of monoallelic deletion and promoter CpG island hypermethyl

40 Cytogenetic studies identified a monoallelic deletion of 17p13 (TP53) in both the cell li

41 We found that the monoallelic deletion of CREB binding protein (CBP) resul

42 We observed monoallelic deletion of PRDM1 loci in 8 of 18 (44%) NKCL

43 drome, a macrocytic anemia caused by a large monoallelic deletion, which we found to also encompass t

44 Monoallelic deletions of 20p12 are variably associated w

45 Monoallelic deletions on chromosome 8p are associated wi

46 FLASH monoallelic deletions were observed in 18% of patients;

47 sing a mouse hybrid F1 system, we found that monoallelic DNA accessibility across autosomes was perva

48 epigenetic regulation of imprinted genes by monoallelic DNA methylation of either maternal or patern

49 e trait loci that are imprinted (iQTL) exert monoallelic effects, depending on the parent of origin,

50 st known imprinted regions and new loci with monoallelic epigenetic marks and monoallelic expression.

51 idence for a stochastic or random process of monoallelic epigenetic silencing of the tumor suppressor

52 Although monoallelic expression (MAE) is a frequent genomic event

53 omal genes are subject to mitotically stable monoallelic expression (MAE), including genes that play

54 consequences of this epigenetic phenomenon, monoallelic expression (MAE).

55 mber of human autosomal genes are subject to monoallelic expression (MAE).

56 The recent descriptions of widespread random monoallelic expression (RMAE) of genes distributed throu

57 versity of autosomal genes subject to random monoallelic expression (RMAE), which provides compelling

58 quencing was used to evaluate deviation from monoallelic expression among 47 placentas heterozygous f

59 Random monoallelic expression and asynchronous replication defi

60 r for the identification of novel genes with monoallelic expression and identify p120 catenin, a gene

61 te here that rhesus monkey ESCs also display monoallelic expression and methylation of X-linked genes

62 c variation in African trypanosomes involves monoallelic expression and reversible silencing of varia

63 ression should be for it to be designated as monoallelic expression and, further, what methods are ap

64 Genes subject to monoallelic expression are expressed from only one of th

65 ication timing that include known regions of monoallelic expression as well as many previously unchar

66 not a prerequisite for the establishment of monoallelic expression at this locus.

67 Random monoallelic expression can lead to phenotypic variation

68 Random monoallelic expression defines an unusual class of genes

69 Provocative new data suggest that FLI1 shows monoallelic expression during a brief window in megakary

70 We assessed the dynamics of monoallelic expression during development through an all

71 Recently, data on 'random' autosomal monoallelic expression has become available for the enti

72 Although random monoallelic expression has been known for decades to aff

73 autosomal mammalian genes subject to random monoallelic expression has been limited to genes highly

74 CDKN1C showed monoallelic expression in both adult and fetal tissue, w

75 of autosomal orthologs demonstrating random monoallelic expression in both organisms was greater tha

76 identification of parental biases alongside monoallelic expression in brain tissues, discuss their p

77 g were observed for KCNQ1 and KCNQ1OT1, with monoallelic expression in fetal tissues and biallelic ex

78 , we report a genome-wide analysis of random monoallelic expression in the mouse.

79 mechanisms that underlie promoter choice and monoallelic expression in the Pcdh-alpha gene cluster ar

80 hose interested in investigating the role of monoallelic expression in their specific genes and tissu

81 The database of autosomal monoallelic expression incorporates data from multiple r

82 ost exciting recent development in mammalian monoallelic expression is a clever and carefully execute

83 Although this monoallelic expression is controlled at the transcriptio

84 generally applicable to other systems where monoallelic expression is desired, and provide guideline

85 The means by which monoallelic expression is established are only beginning

86 locking access to shared enhancers when Igf2 monoallelic expression is initiated in postimplantation

87 tal chromosome affect tumorigenesis if their monoallelic expression is lost or duplicated.

88 different studies, demonstrated that random monoallelic expression is surprisingly widespread among

89 Thus, in most cells, this unusual form of monoallelic expression leads to the expression of two di

90 eles in this model, other means of enforcing monoallelic expression may be more plausible evolutionar

91 Monoallelic expression not due to cis-regulatory sequenc

92 hese results support a model in which random monoallelic expression occurs stochastically during diff

93 Our analysis allowed us to determine the monoallelic expression of 20 genes in tissues of control

94 mRNA was isolated from blood leukocytes, and monoallelic expression of a mutated allele was demonstra

95 Identification of monoallelic expression of a nearly ubiquitous gene indic

96 ghts into the rather prevalent phenomenon of monoallelic expression of autosomal genes as well as int

97 nomic imprinting, X-inactivation, and random monoallelic expression of autosomal genes such as immuno

98 Monoallelic expression of BF Expression Site (BES)-linke

99 A separate group also reported monoallelic expression of chicken IGF2 in developing chi

100 chromatin remodelling of the locus-perturbed monoallelic expression of DLGAP4 mRNAs and non-coding RN

101 Genomic imprinting results in the monoallelic expression of genes that encode important re

102 Taking advantage of the monoallelic expression of GFAP, we show that the functio

103 ong Il4 allelic bias) were utilized to study monoallelic expression of Il4 and coexpression of Il4 an

104 The monoallelic expression of imprinted genes at these three

105 y methylated regions (DMRs) that control the monoallelic expression of imprinted genes involved in me

106 Monoallelic expression of imprinted genes is generally a

107 n irreversible promoter silencing, as in the monoallelic expression of imprinted genes, in the silenc

108 Monoallelic expression of imprinted genes, including one

109 and its methylation is often associated with monoallelic expression of neighboring genes.

110 African trypanosomes show monoallelic expression of one of about 20 telomeric vari

111 The monogenic and monoallelic expression of only one out of >1000 mouse ol

112 date the mechanisms underlying monogenic and monoallelic expression of OR genes.

113 is consistent with the possibility that the monoallelic expression of Pcdh-alpha V exons is a conseq

114 ucleotide polymorphisms, we demonstrate that monoallelic expression of the abundantly expressed OR ge

115 First, monoallelic expression of the antigenically varied VSG i

116 nting control region (ICR) regulates somatic monoallelic expression of the Igf2 and H19 genes.

117 other class of tumors exhibits highly biased monoallelic expression of the mutant Apc allele, providi

118 It is unclear how monoallelic expression of VSG is controlled, and how ina

119 esults suggest a common mechanism for random monoallelic expression on autosomes and the X chromosome

120 erhaps more genes that are subject to random monoallelic expression on mammalian autosomes than there

121 Random monoallelic expression on the mouse autosomes is broadly

122 attern that does not follow classical random monoallelic expression or imprinting.

123 examined (H7, H9, and HSF6 cells) exhibit a monoallelic expression pattern for a majority of X-linke

124 Monoallelic expression poses an intriguing problem in ep

125 Unexpectedly widespread monoallelic expression suggests a mechanism that generat

126 on a few recent developments in the field of monoallelic expression that are of particular interest a

127 at this locus, as well as other instances of monoallelic expression throughout the genome.

128 crete genetic elements that confer imprinted monoallelic expression to several genes in imprinted gen

129 These data suggest that autosomal random monoallelic expression was present at least as far back

130 it is important to take into account random monoallelic expression when examining genotype-phenotype

131 Monoallelic expression with random choice between the ma

132 Monoallelic expression within a gene family is found in

133 lly determined feature found in all cases of monoallelic expression, including genomic imprinting, X-

134 the mechanisms underlying this monogenic and monoallelic expression, we examined the 3D nuclear organ

135 eview will consider different known types of monoallelic expression.

136 olved in the establishment or maintenance of monoallelic expression.

137 nt pairing but that this is not dependent on monoallelic expression.

138 , and greater than 10% of them showed random monoallelic expression.

139 w loci with monoallelic epigenetic marks and monoallelic expression.

140 n imprinted gene, leading to perturbation of monoallelic expression.

141 ide link between antisense transcription and monoallelic expression.

142 nic stem (ES) cells, before establishment of monoallelic expression.

143 ena as possible key regulatory mechanisms of monoallelic expression.

144 nd that more than 300 were subject to random monoallelic expression.

145 eral cytokines have been reported to exhibit monoallelic expression.

146 ted domains and the X chromosome and acquire monoallelic expression.

147 llowed us to address quantitative aspects of monoallelic expression.

148 man and mouse genomes as candidate genes for monoallelic expression.

149 between closely related species to maintain monoallelic expression.

150 n can cause a dramatic epigenetic switch and monoallelic expression.

151 ession, X chromosome inactivation and random monoallelic expression.

152 erging themes are thought to be critical for monoallelic expression: (1) noncoding, often antisense,

153 genes exhibit parentally biased--rather than monoallelic--expression, with different magnitudes accor

154 rface glycoprotein (VSG) genes in a strictly monoallelic fashion in its mammalian hosts, but it is un

155 family and are expressed in a monogenic and monoallelic fashion in olfactory neurons.

156 otein (VSG) gene expression sites (ESs) in a monoallelic fashion using RNA polymerase I (Pol I).

157 es express a uniquely rearranged VLR gene in monoallelic fashion.

158 nia and leukemia, and the second, carrying a monoallelic gene deletion inducing a haploinsufficiency,

159 evelopments, genomic imprinting emerged as a monoallelic gene dosage regulatory mechanism of tightly

160 is an epigenetic phenomenon that results in monoallelic gene expression according to parental origin

161 We identified generally monoallelic gene expression and normal methylation patte

162 nous retrotransposons and the maintenance of monoallelic gene expression at imprinted loci and on the

163 Monoallelic gene expression exposes an organism to the r

164 Monoallelic gene expression is a remarkable process in w

165 Monoallelic gene expression is likely generated through

166 Random autosomal monoallelic gene expression refers to the transcription

167 genetic regulation, their underlying link to monoallelic gene expression remains unclear.

168 We have discovered a new mechanism of monoallelic gene expression that links antigenic variati

169 f the cell type-specific incidence of random monoallelic gene expression, and how the imbalance in al

170 5% and 15% of autosomal genes exhibit random monoallelic gene expression, in which different cells ex

171 R family members as a basis of monogenic and monoallelic gene expression.

172 nd allelic exclusion are classic examples of monoallelic gene expression.

173 imed status, XIST-induced silencing restores monoallelic gene expression.

174 a novel mechanism for genetically determined monoallelic gene expression.

175 Genomic imprinting results in monoallelic gene transcription that is directed by cis-a

176 Examples of random monoallelic genes include those found on the X-chromosom

177 lically expressed genes revealed that random monoallelic genes were flanked by significantly higher d

178 wo alleles either selected at random (random monoallelic genes) or in a parent-of-origin specific man

179 For a majority of monoallelic genes, we also observed some clonal lines di

180 We show here that monoallelic, germline inactivation of the ribosomal prot

181 we have generated multiple hiPSC lines with monoallelic green fluorescent protein tags labeling 10 p

182 Here, we characterize 2 novel monoallelic hemophagocytic lymphohistiocytosis (HLH)-ass

183 Furthermore, monoallelic heterochromatin localization is significantl

184 ase of FLT3-ITD negativity, biallelic versus monoallelic/homozygous CEBPA mutations.

185 Disruption of DLGAP4 results in monoallelic hypermethylation of the truncated DLGAP4 pro

186 ease in cancer cells harboring an endogenous monoallelic IDH1 mutation when mitochondrial IDH flux wa

187 Although monoallelic (ie, heterozygous) mutations have been ident

188 tumor nuclei transiently converted to normal monoallelic imprinted expression in the reconstructed di

189 The maintenance of DMDs is important for monoallelic imprinted gene expression and normal develop

190 Although control concepti had monoallelic imprinted gene expression in all tissues, bo

191 a)J(beta) recombination events are generally monoallelic in developing thymocytes because of frequent

192 ype, we found that expression of p120 can be monoallelic in one cell type and strictly biallelic in a

193 variant and 75 participants who had 13 other monoallelic inactivating mutations in ANGPTL4.

194 etions/mutations found in DLBCLs are largely monoallelic, indicating that FBXO11 is a haplo-insuffici

195 Thus, we describe a new monoallelic inflammasome defect that expands the monogen

196 llelic exclusion is thought to occur through monoallelic initiation and subsequent feedback inhibitio

197 tic steps and molecules that may control the monoallelic initiation and subsequent inhibition of V-to

198 nding at the paternal ICR is associated with monoallelic interaction between two CTCF sites flanking

199 lerance by a complex mechanism that involves monoallelic interchromosomal association, alterations in

200 e in situ hybridization experiments revealed monoallelic interchromosomal colocalization of miR-155 a

201 tal, these results demonstrate biallelic and monoallelic ITPR1 mutations as the underlying genetic de

202 the transcribed allele in NK cell lines with monoallelic KIR expression.

203 This supports the emerging concept that monoallelic KLF1 mutations can play a modulatory role in

204 termediate promoter site, with consequential monoallelic LMO2 overexpression.

205 e two homologous alleles of autosomal random monoallelic loci differ from each other in embryonic ste

206 However, monoallelic looping of IgH V regions into close proximit

207 cinoma (ccRCC) is frequently associated with monoallelic loss and/or mutation of autophagy-related ge

208 cetyltransferase TIP60, a frequent target of monoallelic loss in human carcinomas, can acetylate many

209 Furthermore, monoallelic loss of Becn2 in mice accelerates the progre

210 eshift (P190Lfs and R319Efs) EKLF mutations, monoallelic loss of EKLF does not result in haploinsuffi

211 hality due to heart defects, while mice with monoallelic loss of function mutations or with tissue-sp

212 shared a genetic signature characterized by monoallelic loss of Nf1 and the adjacent Trp53 allele.

213 Moreover, monoallelic loss of Rpl22 accelerates development of thy

214 ), H3K36me3 is not significantly impacted by monoallelic loss of SETD2.

215 Monoallelic loss of the essential autophagy gene beclin1

216 the Variant Surface Glycoprotein (VSG), in a monoallelic manner.

217 at hypermethylation was acquired in APL in a monoallelic manner.

218 Recently we have shown that L3MBTL undergoes monoallelic methylation in hematopoietic tissues and is

219 with placental-specific imprinting, and this monoallelic methylation was entirely maternal in origin.

220 s of approximately 30% extensively skewed or monoallelic methylation, in agreement with likely age-re

221 e hyperinsulism, we found 17 patients with a monoallelic missense mutation of SUR1.

222 Here we report monoallelic missense mutations affecting lysine 91 in th

223 what is usually seen in individuals carrying monoallelic MITF mutations.

224 d at promoters and may act as gatekeepers of monoallelic mRNA expression.

225 Some monoallelic mutated or PTEN wild-type patients lack PTEN

226 ly to Lynch syndrome, but the penetrance for monoallelic mutation carriers appears to be lower than t

227 modestly increased risks of adult cancers in monoallelic mutation carriers.

228 infection, autoimmunity, or cancer, carry a monoallelic mutation in one or more HLH-associated genes

229 i-Fraumeni syndrome patients, we show that a monoallelic mutation of p53 was sufficient to activate t

230 There is no evidence than monoallelic mutation status per se is clinically importa

231 Monoallelic mutation was not associated with an increase

232 4.6%-11.3%) and 5.6% for female carriers of monoallelic mutations (95% CI, 3.6%-8.8%), irrespective

233 70 years of age of 7.2% for male carriers of monoallelic mutations (95% confidence interval [CI], 4.6

234 7 patients screened, 32 (17%) harbored SRSF2 monoallelic mutations affecting residue P95.

235 Evidence that monoallelic mutations also confer an elevated CRC risk i

236 We found that the accumulation of monoallelic mutations did indeed increase the risk of de

237 sequencing of TGFBR1 identified 11 distinct monoallelic mutations in 18 affected families, firmly es

238 We studied 2332 individuals with monoallelic mutations in MUTYH among 9504 relatives of 2

239 Risks of CRC for carriers of monoallelic mutations in MUTYH with a first-degree relat

240 classified as having "sporadic" HLH, 43 had monoallelic mutations in one of the FHL-defining genes.

241 ents with heterozygous MUTYH defects carried monoallelic mutations in other BER genes (OGG1 and MTH1)

242 Monoallelic mutations in PDZD7 increase the severity of

243 Previous methods generate monoallelic mutations in the germ line of F0 animals, us

244 Monoallelic mutations in these genes are associated with

245 lic inheritance, identification of dominant (monoallelic) mutations for Mendelian disorders is more d

246 For monoallelic MUTYH mutation carriers with a first-degree

247 ce CRC genes (3, APC c.3920T>A, p.I1307K; 7, monoallelic MUTYH).

248 erate-penetrance CRC risk gene mutations (19 monoallelic MUTYH, 17 APC*I1307K, two CHEK2).

249 utional MLH1 methylation]; 16, MSH2; 1, MSH2/monoallelic MUTYH; 2, MSH6; 5, PMS2); 1 patient had the

250 ylation at meiotic genes and also at certain monoallelic neural genes (e.g., protocadherins and olfac

251 derwent neuronal differentiation, the mutant monoallelic or biallelelic RTT-iPSCs displayed a defect

252 tional unmutated nonsplenic MZLs also showed monoallelic or biallelic A20 deletions by fluorescent in

253 dividuals with myeloid disorders revealed 49 monoallelic or biallelic EZH2 mutations in 42 individual

254 s from 47 children with T-ALL and identified monoallelic or biallelic LEF1 microdeletions in 11% (5 o

255 considerably better outcome than those with monoallelic or biallelic methylation (n = 101, P = .001)

256 While monogenic and monoallelic OR expression has been appreciated for over

257 This model not only recapitulates monoallelic OR expression, but also elucidates how the o

258 cess of OR choice to allow for monogenic and monoallelic OR expression.

259 essential regulator in the establishment of monoallelic OR expression.

260 ism and one of five RTT brain samples showed monoallelic or highly skewed allelic expression of one o

261 Genomic imprinting refers to the pattern of monoallelic parent-of-origin-dependent gene expression w

262 Imprinted genes are expressed in a monoallelic, parent-of-origin-specific manner.

263 n mammals, such that they are expressed in a monoallelic, parent-of-origin-specific manner.

264 tinguishes parental alleles and results in a monoallelic, parental-specific expression pattern in mam

265 Among families with monoallelic PMS2 mutations, 65.5% met revised Bethesda g

266 Monoallelic point mutations in cytosolic isocitrate dehy

267 Monoallelic point mutations of the NADP(+)-dependent iso

268 human glioma, most often in association with monoallelic PTEN loss.

269 ntaneously reverted to a wild-type allele by monoallelic recombination at the duplicated aluY repeat,

270 However, it is not known whether monoallelic recruitment during establishment of allelic

271 the establishment of IgH allelic exclusion, monoallelic recruitment to heterochromatin does not sile

272 The mechanism behind this monoallelic regulation has been the subject of intense s

273 TMPRSS2 transcription is subjected to tight monoallelic regulation, which is retained upon asymmetri

274 hypothesis that loss of WT MLL function via monoallelic repression contributes to the leukemic pheno

275 correlated with modified ERalpha binding and monoallelic-repression of IGFBP5 following oestrogen tre

276 Monoallelic RUNX1 mutations cause familial platelet diso

277 e Igkappa locus occurs by the combination of monoallelic silencing and a low level of monoallelic act

278 d us to propose that Sis participates in the monoallelic silencing aspect of allelic exclusion regula

279 onstrating that the pre-BCR is essential for monoallelic silencing at the large pre-BII-cell stage.

280 ferences in methylation status of CpG sites, monoallelic silencing, and other epigenetic regulatory m

281 or-suppressor genes, WTX is inactivated by a monoallelic "single-hit" event targeting the single X ch

282 -9 methylation of the PWS-IC and show normal monoallelic Snrpn expression.

283 VSG expression is monoallelic such that only one of approximately 15 telom

284 period most of the animals with wild-type or monoallelic survivin deletion developed adenocarcinomas,

285 Sequencing reveals that >20% of monoallelic TAL1(+) patients without previously known al

286 those genes whose transcription is randomly monoallelic, the asynchronous replication is also random

287 e conversion of the IGF2 imprint status from monoallelic to biallelic, in which the development of se

288 We show that the monoallelic-to-biallelic transcriptional switch is stabl

289 singly, the mutation results in nonimprinted monoallelic transcription of CLPG1 from only the mutated

290 1) is differentially methylated and produces monoallelic transcripts, as in other tissues.

291 we report a cranioskeletal phenotype due to monoallelic truncating and frameshift BMP2 variants and

292 We identified monoallelic truncating PALB2 mutations in 10/923 individ

293 EMC1 as a gene in which either biallelic or monoallelic variants might lead to a syndrome including

294 ovo in 44.7% (17 of 38) of patients with two monoallelic variants.

295 ted genes with paternal allele silencing are monoallelic versus 56% with paternal allele expression-t

296 ressed by separate lymphocyte populations by monoallelic VLRA or VLRB assembly, together with express

297 Monoallelic VSG transcription resumes after reexpression

298 dosage imbalance within cells that is due to monoallelic X-linked expression and biallelic autosomal

299 The molecular basis for monoallelic Xist upregulation is not known, though evide

300 However, these and successor studies of monoallelic Y chromosomal and mitochondrial genetic mark